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183 related items for PubMed ID: 22447314

  • 1. Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria.
    Menni F, Testa S, Guez S, Chiarelli G, Alberti L, Esposito S.
    Pediatr Nephrol; 2012 Aug; 27(8):1401-5. PubMed ID: 22447314
    [Abstract] [Full Text] [Related]

  • 2. Hemolytic uremic syndrome with dual caution in an infant: cobalamin C defect and complement dysregulation successfully treated with eculizumab.
    Barlas UK, Kıhtır HS, Goknar N, Ersoy M, Akcay N, Sevketoglu E.
    Pediatr Nephrol; 2018 Jun; 33(6):1093-1096. PubMed ID: 29558000
    [Abstract] [Full Text] [Related]

  • 3. Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.
    Cornec-Le Gall E, Delmas Y, De Parscau L, Doucet L, Ogier H, Benoist JF, Fremeaux-Bacchi V, Le Meur Y.
    Am J Kidney Dis; 2014 Jan; 63(1):119-23. PubMed ID: 24210589
    [Abstract] [Full Text] [Related]

  • 4. Clinical characteristics of hemolytic uremic syndrome secondary to cobalamin C disorder in Chinese children.
    Li QL, Song WQ, Peng XX, Liu XR, He LJ, Fu LB.
    World J Pediatr; 2015 Aug; 11(3):276-80. PubMed ID: 26253414
    [Abstract] [Full Text] [Related]

  • 5. Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
    Wang F, Han L, Yang Y, Gu X, Ye J, Qiu W, Zhang H, Zhang Y, Gao X, Wang Y.
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S435-42. PubMed ID: 20924684
    [Abstract] [Full Text] [Related]

  • 6. Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency.
    Topaloglu R, İnözü M, Gülhan B, Gürbüz B, Talim B, Coşkun T.
    Nephron; 2019 Dec; 142(3):258-263. PubMed ID: 31137025
    [Abstract] [Full Text] [Related]

  • 7. Cobalamin C defect associated with hemolytic-uremic syndrome.
    Geraghty MT, Perlman EJ, Martin LS, Hayflick SJ, Casella JF, Rosenblatt DS, Valle D.
    J Pediatr; 1992 Jun; 120(6):934-7. PubMed ID: 1593355
    [Abstract] [Full Text] [Related]

  • 8. Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review.
    Chen M, Zhuang J, Yang J, Wang D, Yang Q.
    Medicine (Baltimore); 2017 Oct; 96(43):e8284. PubMed ID: 29068997
    [Abstract] [Full Text] [Related]

  • 9. Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
    Wang J, Li E, Wang L, Wang Z, Yang S, Zhou Q, Chen Q.
    Int J Clin Exp Pathol; 2015 Oct; 8(8):9337-41. PubMed ID: 26464686
    [Abstract] [Full Text] [Related]

  • 10. Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
    Wu SN, E HS, Yu Y, Ling SY, Liang LL, Qiu WJ, Zhang HW, Shuai RX, Wei HY, Yang CJ, Xu P, Chen XG, Zou H, Feng JZ, Niu TT, Hu HL, Zhang KC, Lu DY, Gong ZW, Zhan X, Ji WJ, Gu XF, Chen YX, Han LS.
    World J Pediatr; 2024 Aug; 20(8):848-858. PubMed ID: 38070096
    [Abstract] [Full Text] [Related]

  • 11. [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
    Huang Z, Han LS, Ye J, Qiu WJ, Zhang HW, Gao XL, Wang Y, Ji WJ, Li XY, Gu XF.
    Zhonghua Er Ke Za Zhi; 2013 Mar; 51(3):194-8. PubMed ID: 23751581
    [Abstract] [Full Text] [Related]

  • 12. [Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis].
    Chenel C, Wood C, Gourrier E, Zittoun J, Casadevall I, Ogier H.
    Arch Fr Pediatr; 1993 Nov; 50(9):749-54. PubMed ID: 8060203
    [Abstract] [Full Text] [Related]

  • 13. Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
    Kalantari S, Brezzi B, Bracciamà V, Barreca A, Nozza P, Vaisitti T, Amoroso A, Deaglio S, Manganaro M, Porta F, Spada M.
    Orphanet J Rare Dis; 2022 Feb 02; 17(1):33. PubMed ID: 35109910
    [Abstract] [Full Text] [Related]

  • 14. Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult.
    Philipponnet C, Desenclos J, Brailova M, Aniort J, Kemeny JL, Deville C, Fremeaux-Bacchi V, Souweine B, Heng AE.
    BMC Nephrol; 2020 Mar 12; 21(1):96. PubMed ID: 32164588
    [Abstract] [Full Text] [Related]

  • 15. A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.
    Wang X, Sun W, Yang Y, Jia J, Li C.
    J Neurol Sci; 2012 Jul 15; 318(1-2):155-9. PubMed ID: 22560872
    [Abstract] [Full Text] [Related]

  • 16. Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.
    De Simone L, Capirchio L, Roperto RM, Romagnani P, Sacchini M, Donati MA, de Martino M.
    Ital J Pediatr; 2018 Aug 13; 44(1):90. PubMed ID: 30103768
    [Abstract] [Full Text] [Related]

  • 17. Cobalamin C defect presenting as severe neonatal hyperammonemia.
    Martinelli D, Dotta A, Massella L, Picca S, Di Pede A, Boenzi S, Aiello C, Dionisi-Vici C.
    Eur J Pediatr; 2011 Jul 13; 170(7):887-90. PubMed ID: 21153419
    [Abstract] [Full Text] [Related]

  • 18. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
    Liu YP, Ma YY, Wu TF, Wang Q, Li XY, Ding Y, Song JQ, Huang Y, Yang YL.
    Zhonghua Er Ke Za Zhi; 2012 Jun 13; 50(6):410-4. PubMed ID: 22931934
    [Abstract] [Full Text] [Related]

  • 19. Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
    Sharma AP, Greenberg CR, Prasad AN, Prasad C.
    Pediatr Nephrol; 2007 Dec 13; 22(12):2097-103. PubMed ID: 17874135
    [Abstract] [Full Text] [Related]

  • 20. Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
    Carrillo-Carrasco N, Venditti CP.
    J Inherit Metab Dis; 2012 Jan 13; 35(1):103-14. PubMed ID: 21748408
    [Abstract] [Full Text] [Related]


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